| http://purl.uniprot.org/citations/23382207 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23382207 | http://www.w3.org/2000/01/rdf-schema#comment | "Transactivating response region DNA binding protein (TDP-43) is the major protein component of ubiquitinated inclusions found in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) with ubiquitinated inclusions. Two ALS-causing mutants (TDP-43(Q331K) and TDP-43(M337V)), but not wild-type human TDP-43, are shown here to provoke age-dependent, mutant-dependent, progressive motor axon degeneration and motor neuron death when expressed in mice at levels and in a cell type-selective pattern similar to endogenous TDP-43. Mutant TDP-43-dependent degeneration of lower motor neurons occurs without: (i) loss of TDP-43 from the corresponding nuclei, (ii) accumulation of TDP-43 aggregates, and (iii) accumulation of insoluble TDP-43. Computational analysis using splicing-sensitive microarrays demonstrates alterations of endogenous TDP-43-dependent alternative splicing events conferred by both human wild-type and mutant TDP-43(Q331K), but with high levels of mutant TDP-43 preferentially enhancing exon exclusion of some target pre-mRNAs affecting genes involved in neurological transmission and function. Comparison with splicing alterations following TDP-43 depletion demonstrates that TDP-43(Q331K) enhances normal TDP-43 splicing function for some RNA targets but loss-of-function for others. Thus, adult-onset motor neuron disease does not require aggregation or loss of nuclear TDP-43, with ALS-linked mutants producing loss and gain of splicing function of selected RNA targets at an early disease stage."xsd:string |
| http://purl.uniprot.org/citations/23382207 | http://purl.org/dc/terms/identifier | "doi:10.1073/pnas.1222809110"xsd:string |
| http://purl.uniprot.org/citations/23382207 | http://purl.uniprot.org/core/author | "Yeo G.W."xsd:string |
| http://purl.uniprot.org/citations/23382207 | http://purl.uniprot.org/core/author | "Tessarollo L."xsd:string |
| http://purl.uniprot.org/citations/23382207 | http://purl.uniprot.org/core/author | "Lagier-Tourenne C."xsd:string |
| http://purl.uniprot.org/citations/23382207 | http://purl.uniprot.org/core/author | "Shaw C.E."xsd:string |
| http://purl.uniprot.org/citations/23382207 | http://purl.uniprot.org/core/author | "Da Cruz S."xsd:string |
| http://purl.uniprot.org/citations/23382207 | http://purl.uniprot.org/core/author | "Parone P.A."xsd:string |
| http://purl.uniprot.org/citations/23382207 | http://purl.uniprot.org/core/author | "Cleveland D.W."xsd:string |
| http://purl.uniprot.org/citations/23382207 | http://purl.uniprot.org/core/author | "Huelga S.C."xsd:string |
| http://purl.uniprot.org/citations/23382207 | http://purl.uniprot.org/core/author | "Ditsworth D."xsd:string |
| http://purl.uniprot.org/citations/23382207 | http://purl.uniprot.org/core/author | "Polymenidou M."xsd:string |
| http://purl.uniprot.org/citations/23382207 | http://purl.uniprot.org/core/author | "Ling S.C."xsd:string |
| http://purl.uniprot.org/citations/23382207 | http://purl.uniprot.org/core/author | "Platoshyn O."xsd:string |
| http://purl.uniprot.org/citations/23382207 | http://purl.uniprot.org/core/author | "Marsala M."xsd:string |
| http://purl.uniprot.org/citations/23382207 | http://purl.uniprot.org/core/author | "Swing D."xsd:string |
| http://purl.uniprot.org/citations/23382207 | http://purl.uniprot.org/core/author | "Kordasiewicz H.B."xsd:string |
| http://purl.uniprot.org/citations/23382207 | http://purl.uniprot.org/core/author | "McAlonis-Downes M."xsd:string |
| http://purl.uniprot.org/citations/23382207 | http://purl.uniprot.org/core/author | "Clutario K.M."xsd:string |
| http://purl.uniprot.org/citations/23382207 | http://purl.uniprot.org/core/author | "Arnold E.S."xsd:string |
| http://purl.uniprot.org/citations/23382207 | http://purl.uniprot.org/core/date | "2013"xsd:gYear |
| http://purl.uniprot.org/citations/23382207 | http://purl.uniprot.org/core/name | "Proc Natl Acad Sci U S A"xsd:string |
| http://purl.uniprot.org/citations/23382207 | http://purl.uniprot.org/core/pages | "E736-45"xsd:string |
| http://purl.uniprot.org/citations/23382207 | http://purl.uniprot.org/core/title | "ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43."xsd:string |